Linked Data
dbSNP Id:
rs551631223
gnomAD v2:
20-56138027-C-T
gnomAD v3:
20-57562971-C-T
gnomAD v4:
20-57562971-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562971C>T , CM000682.2:g.57562971C>T | GRCh38 |
| NC_000020.10:g.56138027C>T , CM000682.1:g.56138027C>T | GRCh37 |
| NC_000020.9:g.55571433C>T | NCBI36 |
| NG_008205.1:g.6891C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.611-57C>T MANE Select | ENSP00000319814.4:n.611-57C>T | |
| ENST00000319441.5:c.611-57C>T | ENSP00000319814.4:n.611-57C>T | |
| ENST00000467047.1:n.1892C>T | ||
| ENST00000470051.1:n.138C>T | ||
| ENST00000498194.1:n.553-57C>T | ||
| NM_002591.3:c.611-57C>T | NP_002582.3:n.611-57C>T | |
| XM_011528839.1:c.215-57C>T | XP_011527141.1:n.215-57C>T | |
| XM_024451888.1:c.215-57C>T | XP_024307656.1:n.215-57C>T | |
| NM_002591.4:c.611-57C>T MANE Select | NP_002582.3:n.611-57C>T |